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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:
CA1629703497
Gene: HMGCLL1
HGNC
NCBI
Linked Data
dbSNP Id:
rs201766416
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.55608495_55608496dup , CM000668.2:g.55608495_55608496dup
GRCh38
NC_000006.11:g.55473293_55473294dup , CM000668.1:g.55473293_55473294dup
GRCh37
NC_000006.10:g.55581252_55581253dup
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XM_011514701.1:c.-279-66350_-279-66349dup
XP_011513003.1:n.-279-66350_-279-66349dup...
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