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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1664253721
Gene: ENPP1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1781875251
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.131851138_131851148del , CM000668.2:g.131851138_131851148del
GRCh38
NC_000006.11:g.132172278_132172288del , CM000668.1:g.132172278_132172288del
GRCh37
NC_000006.10:g.132213971_132213981del
NCBI36
NG_008206.1:g.48123_48133del
Transcript Alleles
HGVS
Amino-acid change
ENST00000647893.1:c.431-4_437del
ENST00000650147.1:c.109-4_115del
ENST00000650437.1:c.108+1032_108+1042del
ENST00000360971.6:c.431-4_437del
ENST00000486853.1:n.451-4_457del
ENST00000513998.5:c.431-4_437del
NM_006208.2:c.431-4_437del
NM_006208.3:c.431-4_437del
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