ClinGen Allele Registry
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Canonical Allele Identifier:
PA121086
Gene: ALAS2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV003322588
ClinVar Variation:
10474
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000023.2:p.Asp190Val
CA121085
NM_000032.5:c.569A>T