ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825381855
Gene: ALAS2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000011221
RCV003555997
ClinVar Variation:
10475
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001033056.1:p.Arg374Cys
CA121087
NM_001037967.4:c.1120C>T