ClinGen Allele Registry
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Canonical Allele Identifier:
PA121091
Gene: ALAS2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000011223
ClinVar Variation:
10477
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000023.2:p.Cys395Tyr
CA121090
NM_000032.5:c.1184G>A