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: PA645476085

Gene: PMPCA HGNC NCBI

Linked Data

ClinVar Variation Id: 375400

ClinVar RCV Id: RCV000416418

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_055975.1:p.Arg22Trp	CA16044226 NM_015160.3:c.64C>T