ClinGen Allele Registry
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Canonical Allele Identifier:
PA121096
Gene: ALAS2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000011227
ClinVar Variation:
10481
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000023.2:p.His524Asp
CA121095
NM_000032.5:c.1570C>G