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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:
CA2581936652
Gene:
Linked Data
gnomAD v3:
19-10286630-GT-G
gnomAD v4:
19-10286630-GT-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.10286632del , CM000681.2:g.10286632del
GRCh38
NC_000019.9:g.10397308del , CM000681.1:g.10397308del
GRCh37
NC_000019.8:g.10258308del
NCBI36
NG_007728.1:g.4659del
NG_012083.1:g.20792del
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