ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825381895
Gene: ALAS2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000376222
RCV001572292
RCV001821130
ClinVar Variation:
368592
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001033056.1:p.His486Tyr
CA10428272
NM_001037967.4:c.1456C>T