ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825381921
Gene: ALAS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
49400
ClinVar RCV:
RCV000033870
RCV000199418
RCV000990842
ClinVar Variation:
40978
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001033056.1:p.Tyr549Phe
CA323962
NM_001037967.4:c.1646A>T