ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825381953
Gene: ALAS2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000011230
ClinVar Variation:
10484
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001033057.1:p.Tyr186His
CA121097
NM_001037968.4:c.556T>C