ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580102597
Gene: ALAS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2289564
ClinVar RCV Id:
RCV002849020
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000023.2:p.Arg375His
CA10428337
NM_000032.5:c.1124G>A