ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658671263
Gene: HMBS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
449465
ClinVar RCV Id:
RCV000522139
RCV001254080
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001245137.1:p.Thr35Met
CA229593101
NM_001258208.2:c.104C>T