ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA103423
Gene: HMBS
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.018138794
Score
-0.169740987
Score
0.10360063
Linked Data - NCBI & NCI
ClinVar Allele:
16510
ClinVar RCV:
RCV000001536
ClinVar Variation:
1471
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000181.2:p.Glu250Lys
CA251830
NM_000190.4:c.748G>A