ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA115021
Gene: HMBS
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000001549
RCV001851553
ClinVar Variation:
1484
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000181.2:p.Met1Val