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: PA2827305938

Gene: MTHFR HGNC NCBI

Linked Data

ClinVar Variation Id: 187870

ClinVar RCV Id: RCV000167590

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317287.1:p.Arg123Trp	CA198568 NM_001330358.2:c.367C>T