Allele Registry

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.

Canonical Allele Identifier: PA102779

Gene: HGD HGNC NCBI

Linked Data

ClinVar Variation Id: 3173

ClinVar RCV Id: RCV000003323 RCV002279945 RCV002287319

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000178.2:p.Met368Val	CA340048 NM_000187.4:c.1102A>G