ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825333037
Gene: HMBS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
449465
ClinVar RCV Id:
RCV000522139
RCV001254080
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001019553.1:p.Thr18Met
CA229593101
NM_001024382.2:c.53C>T