ClinGen Allele Registry
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Canonical Allele Identifier:
PA121094
Gene: ALAS2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000011225
ClinVar Variation:
10479
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000023.2:p.Asp159Asn
CA121093
NM_000032.5:c.475G>A