ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645472545
Gene: ALAS2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000500755
RCV002524146
RCV003485595
ClinVar Variation:
434119
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000023.2:p.Ile125Val
CA10428433
NM_000032.5:c.373A>G